Literature DB >> 28460265

Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child.

Hassan M Yaish1, Colin P Farrell2, Robert D Christensen3, Brianna C MacQueen4, Laurie K Jackson2, Jesus Trochez-Enciso2, Jerry Kaplan5, Diane M Ward5, Walid K Salah6, John D Phillips7.   

Abstract

In an iron deficient child, oral iron repeatedly failed to improve the condition. Whole exome sequencing identified one previously reported plus two novel mutation in the TMPRSS6 gene, with no mutations in other iron-associated genes. We propose that these mutations result in a novel variety of iron-refractory iron deficiency anemia.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Anemia; Iron; Whole exome sequencing

Mesh：

Substances：

Year:  2017        PMID： 28460265      PMCID： PMC5656052          DOI： 10.1016/j.bcmd.2017.04.002

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


  16 in total

1.  Effects of iron supplementation on serum hepcidin and serum erythropoietin in low-birth-weight infants.

Authors:  Staffan Berglund; Bo Lönnerdal; Björn Westrup; Magnus Domellöf
Journal:  Am J Clin Nutr       Date:  2011-11-09       Impact factor: 7.045

2.  Microcytic anaemia with low transferrin saturation, increased serum hepcidin and non-synonymous TMPRSS6 variants: not always iron-refractory iron deficiency anaemia.

Authors:  Albertine E Donker; Paul P T Brons; Dorine W Swinkels
Journal:  Br J Haematol       Date:  2014-10-14       Impact factor: 6.998

3.  Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.

Authors:  Hui Yang; Peter N Robinson; Kai Wang
Journal:  Nat Methods       Date:  2015-07-20       Impact factor: 28.547

Review 4.  Ferroportin-mediated iron transport: expression and regulation.

Authors:  Diane M Ward; Jerry Kaplan
Journal:  Biochim Biophys Acta       Date:  2012-03-13

5.  The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment.

Authors:  Erika Poggiali; Fabio Andreozzi; Isabella Nava; Dario Consonni; Giovanna Graziadei; Maria Domenica Cappellini
Journal:  Am J Hematol       Date:  2015-03-02       Impact factor: 10.047

Review 6.  The molecular basis of iron overload disorders and iron-linked anemias.

Authors:  Jerry Kaplan; Diane M Ward; Ivana De Domenico
Journal:  Int J Hematol       Date:  2011-01-07       Impact factor: 2.490

7.  Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.

Authors:  Dong-Anh Khuong-Quang; Jeremy Schwartzentruber; Mark Westerman; Pierre Lepage; Karin E Finberg; Jacek Majewski; Nada Jabado
Journal:  Pediatrics       Date:  2013-01-14       Impact factor: 7.124

8.  A fully human anti-hepcidin antibody modulates iron metabolism in both mice and nonhuman primates.

Authors:  Keegan S Cooke; Beth Hinkle; Hossein Salimi-Moosavi; Ian Foltz; Chadwick King; Palaniswami Rathanaswami; Aaron Winters; Shirley Steavenson; C Glenn Begley; Graham Molineux; Barbra J Sasu
Journal:  Blood       Date:  2013-08-14       Impact factor: 22.113

9.  Administration of recombinant erythropoietin alone does not improve the phenotype in iron refractory iron deficiency anemia patients.

Authors:  Kai Lehmberg; Regine Grosse; Martina U Muckenthaler; Sandro Altamura; Peter Nielsen; Hansjörg Schmid; Ulrike Graubner; Florian Oyen; Wolfgang Zeller; Reinhard Schneppenheim; Gritta E Janka
Journal:  Ann Hematol       Date:  2012-11-20       Impact factor: 3.673

Review 10.  Hepcidin antagonists for potential treatments of disorders with hepcidin excess.

Authors:  Maura Poli; Michela Asperti; Paola Ruzzenenti; Maria Regoni; Paolo Arosio
Journal:  Front Pharmacol       Date:  2014-04-28       Impact factor: 5.810
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  6 in total

1.  Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Authors:  Jessica A Meznarich; Lauren Draper; Robert D Christensen; Hassan M Yaish; Nick D Luem; Theodore J Pysher; Grace Jung; Elizabeta Nemeth; Tomas Ganz; Diane M Ward
Journal:  Blood Cells Mol Dis       Date:  2018-03-20       Impact factor: 3.039

2.  The catalytic, stem, and transmembrane portions of matriptase-2 are required for suppressing the expression of the iron-regulatory hormone hepcidin.

Authors:  Peizhong Mao; Aaron M Wortham; Caroline A Enns; An-Sheng Zhang
Journal:  J Biol Chem       Date:  2018-12-17       Impact factor: 5.157

3.  The ectodomain of matriptase-2 plays an important nonproteolytic role in suppressing hepcidin expression in mice.

Authors:  Caroline A Enns; Shall Jue; An-Sheng Zhang
Journal:  Blood       Date:  2020-08-20       Impact factor: 22.113

4.  Screening umbilical cord blood for congenital Iron deficiency.

Authors:  Brianna C MacQueen; Robert D Christensen; Vickie L Baer; Diane M Ward; Gregory L Snow
Journal:  Blood Cells Mol Dis       Date:  2019-04-08       Impact factor: 3.039

5.  Functional diversity of TMPRSS6 isoforms and variants expressed in hepatocellular carcinoma cell lines.

Authors:  Sébastien P Dion; François Béliveau; Louis-Philippe Morency; Antoine Désilets; Rafaël Najmanovich; Richard Leduc
Journal:  Sci Rep       Date:  2018-08-22       Impact factor: 4.379

6.  A Rare Case of Plummer-Vinson Syndrome.

Authors:  Ajay K Gade; Lauren Pacheco
Journal:  Cureus       Date:  2019-12-25
  6 in total

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